Familial pulmonary fibrosis
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:26 p.m.
Comment on publications: Added publications suggested by expert reviewerCreated: 27 Apr 2017, 3:25 p.m.
Philip Molyneaux (Imperial College)
Associated with pulonary fibrosis, but strong recurernt infection signal. One other publication to add PMID: 23430038Created: 26 Apr 2017, 9:25 a.m.
Alice Gardham (Genomics England)
Lung disease occurred in 25 (54%) of 46 patients, with infant respiratory distress syndrome present at term in 19 (76%) patients and recurrent pulmonary infections in 6 (24%). On follow-up, 5 (20%) of 25 developed severe chronic interstitial lung disease, and 4 (16%) of 25 died from respiratory failure or infant respiratory distress syndrome. (Carre et al 2009)Created: 9 Feb 2017, 11:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
- Associated with pulmonary fibrosis, but strong recurrent infection signal
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Surfactant deficiency
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pulmonary fibrosis familial
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978;Associated with pulmonary fibrosis, but strong recurrent infection signal
Set publications
Louise Daugherty (Genomics England Curator)Publications for NKX2-1 were set to 9565498; 19336474; 23430038
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)NKX2-1 was created by agardham
Added New Source
Alice Gardham (Genomics England)NKX2-1 was added to Familial pulmonary fibrosispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory